ClinVar Miner

List of variants studied for Leber congenital amaurosis 2; Retinitis pigmentosa 20 by Invitae

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Total variants: 125
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HGVS dbSNP
NC_000001.11:g.(?_68438187)_(68484090_?)del
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909
NM_000329.3(RPE65):c.102C>A (p.Ile34=) rs146357166
NM_000329.3(RPE65):c.1034A>G (p.Asn345Ser)
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.106C>T (p.Leu36Phe)
NM_000329.3(RPE65):c.1070C>A (p.Ala357Asp)
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) rs121917744
NM_000329.3(RPE65):c.1098G>A (p.Arg366=) rs764589805
NM_000329.3(RPE65):c.1098G>C (p.Arg366Ser)
NM_000329.3(RPE65):c.10del (p.Gln4fs) rs747393487
NM_000329.3(RPE65):c.11+2T>G
NM_000329.3(RPE65):c.11+5G>A rs61751276
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011
NM_000329.3(RPE65):c.1152C>G (p.Val384=) rs1571158917
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met) rs201379753
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014
NM_000329.3(RPE65):c.1169C>T (p.Thr390Ile)
NM_000329.3(RPE65):c.117C>T (p.Thr39=) rs143929144
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281
NM_000329.3(RPE65):c.1194C>T (p.Asp398=) rs139640666
NM_000329.3(RPE65):c.1195G>A (p.Glu399Lys)
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) rs62636298
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys) rs369142161
NM_000329.3(RPE65):c.1243+10T>C rs548537552
NM_000329.3(RPE65):c.1244-5C>T rs202185816
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe)
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1298A>G (p.Tyr433Cys)
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282
NM_000329.3(RPE65):c.1322A>G (p.His441Arg)
NM_000329.3(RPE65):c.1338+1G>A rs1057518922
NM_000329.3(RPE65):c.1338+3A>T
NM_000329.3(RPE65):c.1338+8A>G rs777211540
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586
NM_000329.3(RPE65):c.1339-4A>G
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)
NM_000329.3(RPE65):c.1395A>G (p.Ser465=) rs764923358
NM_000329.3(RPE65):c.1409C>A (p.Pro470His)
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) rs1571158279
NM_000329.3(RPE65):c.1435T>C (p.Leu479=) rs373882259
NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly)
NM_000329.3(RPE65):c.1449T>C (p.Asp483=)
NM_000329.3(RPE65):c.147_148insCAAA (p.Phe50fs)
NM_000329.3(RPE65):c.1491A>G (p.Gln497=) rs766848627
NM_000329.3(RPE65):c.1519G>T (p.Ala507Ser)
NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg)
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745
NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr) rs281865291
NM_000329.3(RPE65):c.1582G>A (p.Gly528Arg)
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr)
NM_000329.3(RPE65):c.168A>G (p.Pro56=) rs150260489
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser) rs1553153597
NM_000329.3(RPE65):c.237C>T (p.Tyr79=) rs371095928
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932
NM_000329.3(RPE65):c.268G>A (p.Val90Ile)
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873
NM_000329.3(RPE65):c.295G>A (p.Val99Ile) rs143056561
NM_000329.3(RPE65):c.298A>C (p.Ile100Leu)
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584
NM_000329.3(RPE65):c.308T>C (p.Phe103Ser)
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn)
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877
NM_000329.3(RPE65):c.375A>G (p.Gly125=) rs992113946
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923
NM_000329.3(RPE65):c.400_402del (p.Val134del)
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583
NM_000329.3(RPE65):c.421G>T (p.Glu141Ter)
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) rs56021047
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)
NM_000329.3(RPE65):c.441A>G (p.Thr147=) rs185049543
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581
NM_000329.3(RPE65):c.496-4G>A rs138146176
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883
NM_000329.3(RPE65):c.507C>A (p.Cys169Ter)
NM_000329.3(RPE65):c.536C>T (p.Ala179Val)
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510
NM_000329.3(RPE65):c.564C>T (p.Thr188=) rs764476046
NM_000329.3(RPE65):c.585C>T (p.Cys195=) rs571111378
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391
NM_000329.3(RPE65):c.621A>G (p.Val207=) rs746032112
NM_000329.3(RPE65):c.624G>A (p.Lys208=) rs1170839612
NM_000329.3(RPE65):c.643+2T>A
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277
NM_000329.3(RPE65):c.675C>G (p.Ile225Met) rs114379164
NM_000329.3(RPE65):c.676G>A (p.Val226Ile)
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) rs61752896
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.726-2A>T
NM_000329.3(RPE65):c.743A>G (p.Asn248Ser)
NM_000329.3(RPE65):c.744C>A (p.Asn248Lys)
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)
NM_000329.3(RPE65):c.751G>A (p.Val251Ile)
NM_000329.3(RPE65):c.75G>A (p.Pro25=) rs199529021
NM_000329.3(RPE65):c.777T>C (p.Ile259=) rs762186209
NM_000329.3(RPE65):c.783G>T (p.Leu261=) rs188493184
NM_000329.3(RPE65):c.7A>G (p.Ile3Val)
NM_000329.3(RPE65):c.829_833del (p.Asp277fs)
NM_000329.3(RPE65):c.874G>A (p.Ala292Thr)
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901
NM_000329.3(RPE65):c.886A>C (p.Arg296=) rs1399365841
NM_000329.3(RPE65):c.893del (p.Lys298fs) rs61752902
NM_000329.3(RPE65):c.902A>G (p.Asn301Ser)
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile)
NM_000329.3(RPE65):c.942C>T (p.His314=) rs752875512
NM_000329.3(RPE65):c.95-10T>A rs547374432
NM_000329.3(RPE65):c.95-2A>T rs61751279
NM_000329.3(RPE65):c.953A>G (p.Tyr318Cys)
NM_000329.3(RPE65):c.962dup (p.Asn321fs) rs61752906
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178
NM_000329.3(RPE65):c.975T>G (p.Ile325Met) rs761227832
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) rs61752908
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup) rs1571165140

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